RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Encephalocele
Accession: DOID:9000983
browse the term
Definition: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Synonyms: exact_synonym: Acquired Encephalocele; Acquired Encephaloceles; Bifid Cranium; Bifid Craniums; Cephalocele; Cephaloceles; Cerebellar Hernia; Cerebellar Hernias; Cerebellar Herniation; Cerebellar Herniations; Cerebral Hernia; Cerebral Hernias; Cranial Meningoencephalocele; Cranial Meningoencephaloceles; Craniocele; Cranioceles; Cranium Bifidum; Cranium Bifidums; Encephaloceles; Frontal Encephalocele; Frontal Encephaloceles; Notoencephalocele; Notoencephaloceles; Occipital Encephalocele; Occipital Encephaloceles; Sincipital Encephalocele; Sincipital Encephaloceles; Tonsillar Hernia; Tonsillar Hernias; Tonsillar Herniation; Tonsillar Herniations
primary_id: MESH:D004677 ; RDO:0001577
For additional species annotation, visit the
Alliance of Genome Resources .
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:19777577 PMID:25741868 PMID:26862157 PMID:28492532 PMID:31680349
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele
ClinVar
PMID:16909394 PMID:17345604 PMID:17564974 PMID:17705300 PMID:20683928 PMID:20690115 PMID:21866095 PMID:25377065 PMID:25525159 PMID:25741868 PMID:26092869 PMID:27894351 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29398085 PMID:31680349 More...
NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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Dnai3
dynein axonemal intermediate chain 3
ISO
ClinVar Annotator: match by term: Occipital encephalocele
ClinVar
PMID:29285825
NCBI chr 2:234,947,910...235,006,173
Ensembl chr 2:234,929,677...235,006,173
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Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Cephalocele
ClinVar
PMID:25741868 PMID:26167768 PMID:30858804 PMID:31474318
NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Rpgrip1l
Rpgrip1-like
ISO
associated with Meckel Syndrome, Type 5;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Szt2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Encephalocele
ClinVar
PMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349
NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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Adamts18
ADAM metallopeptidase with thrombospondin type 1 motif, 18
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:21862674 PMID:23667181 PMID:28492532
NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
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Col18a1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: Knobloch syndrome
OMIM ClinVar
PMID:1554013 PMID:9536098 PMID:10942434 PMID:12415512 PMID:14695535 PMID:16199547 PMID:17546652 PMID:17576681 PMID:17975799 PMID:19160445 PMID:19390655 PMID:20799329 PMID:20979194 PMID:21862674 PMID:21937992 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:27259167 PMID:28041643 PMID:28144890 PMID:28492532 PMID:29977801 PMID:30007336 PMID:32860008 More...
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Slc19a1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: Knobloch syndrome
ClinVar
PMID:1554013 PMID:9536098 PMID:12415512 PMID:14695535 PMID:17546652 PMID:17576681 PMID:19390655 PMID:21862674 PMID:23667181 PMID:24033266 PMID:25456301 PMID:25741868 PMID:26467025 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32860008 More...
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar
PMID:16199547 PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 PMID:29165578 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17964524 PMID:19959640 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23847139 PMID:25377065 PMID:25741868 PMID:26047050 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29146704 PMID:29398085 PMID:29482223 PMID:29641573 PMID:30718709 PMID:30902645 PMID:31630094 PMID:32865313 PMID:33546218 More...
NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:28492532
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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LOC120095383
U8 small nucleolar RNA
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human) DNA:deletion:intron:IVS15-7_35del (human) DNA:splice-site mutation:intron:c.515 + 6T>C (mouse) DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
OMIM ClinVar RGD
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:29620724 PMID:30076350 PMID:30718709 PMID:31191208 PMID:33584783 PMID:34008892 PMID:23351400 PMID:17935508 PMID:19776033 PMID:21045211 PMID:17397051 More...
RGD:11535078 , RGD:11535074 , RGD:11535068 , RGD:11535065 , RGD:11063991
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar
PMID:17558407 PMID:17558409 PMID:19430481 PMID:20301500 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 More...
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar
PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 More...
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Kif14
kinesin family member 14
ISO
ClinVar Annotator: match by term: Meckel syndrome 12
OMIM ClinVar
PMID:24128419 PMID:25741868 PMID:28492532
NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Meckel syndrome 13
OMIM ClinVar
PMID:25741868 PMID:26123494 PMID:26595381
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem216
transmembrane protein 216
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 2 DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM ClinVar RGD
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20512146 More...
RGD:11067331
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Tmem67
transmembrane protein 67
ISO IAGP
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 DNA:deletion DNA:deletions, missense mutation, splice-site mutations: :multiple DNA:missense mutation:exon:p.P394L (rat) DNA:missense mutation:exon:p.R549C (c.1645C>T) (human) DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human) DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human) DNA:missense mutations, splice-site mutation:exon:multiple
OMIM ClinVar RGD
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22121117 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26546361 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28973083 PMID:29127258 PMID:29891882 PMID:29974258 PMID:34032358 PMID:19211713 PMID:16415887 PMID:16415887 PMID:26191240 PMID:23351400 PMID:17377820 PMID:17397051 More...
RGD:11535945 , RGD:11535082 , RGD:11535082 , RGD:11535080 , RGD:11535078 , RGD:11068761 , RGD:11063991
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:16415887
RGD:11535082
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 DNA:frameshift mutation:exon:c.5489del (human)
OMIM ClinVar RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25525159 PMID:25741868 PMID:25818971 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:27353947 PMID:27375279 PMID:27894351 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28912962 PMID:29146704 PMID:29398085 PMID:29482223 PMID:29588463 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31624253 PMID:31680349 PMID:31734136 PMID:33546218 PMID:33726816 PMID:34196655 PMID:34795310 PMID:17705300 More...
RGD:11070805
NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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RGD1307947
similar to RIKEN cDNA C430008C19
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
PMID:28492532
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Tmem218
transmembrane protein 218
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 4
ClinVar
PMID:33791682
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Rpgrip1l
Rpgrip1-like
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 5
OMIM ClinVar
PMID:17558407 PMID:17558409 PMID:18414213 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:23188109 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:29343940 PMID:29991045 More...
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 6
OMIM ClinVar
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22995991 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28492532 PMID:29165578 PMID:32488064 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709 More...
NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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Tctn2
tectonic family member 2
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 6
ClinVar
PMID:21462283 PMID:23169490 PMID:26729329
NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Enlarged parietal foramina CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11137991
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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Msx2
msh homeobox 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Enlarged parietal foramina
CTD ClinVar
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 PMID:10767351 PMID:11137991 PMID:18786927 PMID:23918290 PMID:23949913 PMID:25741868 PMID:27013732 PMID:27884935 PMID:28492532 PMID:28808027 More...
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Parietal foramina 1
OMIM ClinVar
PMID:10742103 PMID:10767351 PMID:16222674 PMID:25741868 PMID:28492532
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Parietal foramina 2
OMIM ClinVar
PMID:11106354 PMID:11137991 PMID:16319823 PMID:22829454 PMID:24764194 PMID:25741868 PMID:28492532 More...
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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Msx2
msh homeobox 2
ISO
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
OMIM ClinVar
PMID:14571277
NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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